Variant report

Variant	rs4650736
Chromosome Location	chr1:175187933-175187934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175160945..175164474-chr1:175187377..175192795,5	MCF-7	breast:
2	chr1:175185788..175188224-chr1:175189166..175191897,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235750	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12066900	1.00[EUR][1000 genomes]
rs12074601	1.00[EUR][1000 genomes]
rs2157566	1.00[EUR][1000 genomes]
rs2861278	1.00[EUR][1000 genomes]
rs4650737	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4651393	1.00[EUR][1000 genomes]
rs4651397	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4651401	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4651403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4651442	1.00[EUR][1000 genomes]
rs60264525	1.00[EUR][1000 genomes]
rs60781969	1.00[EUR][1000 genomes]
rs61553406	1.00[EUR][1000 genomes]
rs6685421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032419	1.00[EUR][1000 genomes]
rs73032430	1.00[EUR][1000 genomes]
rs73032442	1.00[EUR][1000 genomes]
rs73032445	1.00[EUR][1000 genomes]
rs73034615	1.00[EUR][1000 genomes]
rs73036233	1.00[EUR][1000 genomes]
rs73036254	1.00[EUR][1000 genomes]
rs73038926	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038947	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046091	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175178400-175191400	Weak transcription	Spleen	Spleen
2	chr1:175182600-175188200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:175184200-175190400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:175185400-175188600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:175185400-175190000	Weak transcription	Fetal Lung	lung
6	chr1:175185600-175188200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:175185600-175189000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:175186200-175189600	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:175186200-175191600	Enhancers	Fetal Intestine Large	intestine
10	chr1:175186400-175188800	Enhancers	GM12878-XiMat	blood
11	chr1:175186400-175189800	Enhancers	Primary B cells from cord blood	blood
12	chr1:175186400-175191600	Enhancers	Fetal Intestine Small	intestine
13	chr1:175186400-175192000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:175186600-175188400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:175186600-175191800	Enhancers	Adipose Nuclei	Adipose
16	chr1:175186800-175188600	Enhancers	Psoas Muscle	Psoas
17	chr1:175186800-175189200	Enhancers	Fetal Thymus	thymus
18	chr1:175187000-175188400	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:175187000-175192000	Enhancers	Fetal Muscle Leg	muscle
20	chr1:175187400-175188800	Enhancers	Left Ventricle	heart
21	chr1:175187600-175188400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:175187600-175190000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:175187600-175190000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:175187800-175188000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:175187800-175189200	Enhancers	Primary T cells from cord blood	blood
26	chr1:175187800-175190000	Enhancers	NHEK	skin
27	chr1:175187800-175190400	Enhancers	HMEC	breast
28	chr1:175187800-175192200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:175187800-175192400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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